Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 0.925 0.120 9 95107211 frameshift variant AG/- delins 4.0E-06 0.700 1.000 4 1993 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP C
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
73 0.925 0.120 9 95107211 frameshift variant AG/- delins 4.0E-06 0.700 1.000 1 2016 2016